Rune R. Frants

Q: What Schools Are Affiliated With Rune R. Frants

Rune R. Frants is affiliated with the following schools: Leiden University

Rune R. Frants's AcademicInfluence.com Rankings

Rune R. Frants

Biology

#12608

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#16094

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Genetics

#1386

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#1488

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Molecular Biology

#2064

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#2096

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Neuroscience

#2129

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#2188

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Biology

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Rune R. Frants's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4 (1996) (2260)
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk (2010) (2087)
Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus (1994) (912)
Localization of the gene for Cowden disease to chromosome 10q22–23 (1996) (641)
A Cacna1a Knockin Migraine Mouse Model with Increased Susceptibility to Cortical Spreading Depression (2004) (633)
A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy (2010) (613)
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy (1992) (602)
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 (2012) (492)
Novel Loci for Adiponectin Levels and Their Influence on Type 2 Diabetes and Metabolic Traits: A Multi-Ethnic Meta-Analysis of 45,891 Individuals (2012) (459)
Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16‐Leiden) (2000) (396)
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter (2001) (366)
Novel mutations in the Na+, K+‐ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions (2003) (360)
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy (2003) (359)
C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy (2007) (356)
Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1 (2010) (350)
Genome-wide meta-analysis identifies new susceptibility loci for migraine (2013) (336)
Delayed cerebral edema and fatal coma after minor head trauma: Role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine (2001) (333)
Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element. (1999) (316)
Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds (1995) (315)
Molecular genetics of migraine (2009) (288)
Genome-wide association analysis identifies susceptibility loci for migraine without aura (2012) (286)
Diet-induced hyperlipoproteinemia and atherosclerosis in apolipoprotein E3-Leiden transgenic mice. (1994) (285)
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. (1997) (277)
Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease (1993) (264)
Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1γ/Cohesin Binding at D4Z4 Repeats Is Associated with Facioscapulohumeral Dystrophy (FSHD) (2009) (254)
Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. (2001) (250)
Transgenic mice carrying the apolipoprotein E3-Leiden gene exhibit hyperlipoproteinemia. (1993) (249)
Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere (2002) (244)
Migraine and MTHFR C677T genotype in a population‐based sample (2006) (218)
Low density lipoprotein receptor internalizes low density and very low density lipoproteins that are bound to heparan sulfate proteoglycans via lipoprotein lipase. (1993) (214)
High cortical spreading depression susceptibility and migraine‐associated symptoms in Cav2.1 S218L mice (2010) (202)
Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. (2007) (193)
Common epigenetic changes of D4Z4 in contraction‐dependent and contraction‐independent FSHD (2009) (177)
Melanocortin-1 receptor variant R151C modifies melanoma risk in Dutch families with melanoma. (2001) (175)
Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals. (2010) (168)
Increased Risk of Cancer Other Than Melanoma in CDKN2A Founder Mutation (p16-Leiden)-Positive Melanoma Families (2008) (162)
Diet-induced hypercholesterolemia and atherosclerosis in heterozygous apolipoprotein E-deficient mice. (1994) (154)
Promoter hypermethylation: a common cause of reduced p16(INK4a) expression in uveal melanoma. (2001) (150)
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. (2011) (145)
Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2. (2001) (145)
Genetic heterogeneity of apolipoprotein E and its influence on plasma lipid and lipoprotein levels (1994) (144)
AHNAK a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration (2007) (137)
The cholesterol-raising factor from coffee beans, cafestol, as an agonist ligand for the farnesoid and pregnane X receptors. (2007) (132)
Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin. (2002) (131)
Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3. (2001) (127)
Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake. (2009) (123)
Familial hemiplegic migraine locus on 19p13 is involved in the common forms of migraine with and without aura (1995) (123)
Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy. (1996) (123)
The FSHD‐linked locus D4F104S1 (p13E‐11) ON 4q35 has a homologue on 10qter (1995) (118)
Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy. (2004) (117)
Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy (2005) (117)
Effect of oral omeprazole on serum gastrin and serum pepsinogen I levels. (1984) (110)
Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine (2007) (108)
Scavenger receptor deficiency leads to more complex atherosclerotic lesions in APOE3Leiden transgenic mice. (1999) (108)
The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland. (1992) (108)
High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families. (1995) (106)
The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies (2007) (106)
Alpha-1 antitrypsin Null mutations and severity of emphysema. (2008) (105)
Prevalence and heritability of the metabolic syndrome and its individual components in a Dutch isolate: the Erasmus Rucphen Family study (2008) (105)
CDKN2 explains part of the clinical phenotype in Dutch familial atypical multiple‐mole melanoma (FAMMM) syndrome families (1995) (104)
Intrinsic Epigenetic Regulation of the D4Z4 Macrosatellite Repeat in a Transgenic Mouse Model for FSHD (2013) (103)
A high-density association screen of 155 ion transport genes for involvement with common migraine. (2008) (102)
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations. (2016) (99)
Familial dysbetalipoproteinemia associated with apolipoprotein E3-Leiden in an extended multigeneration pedigree. (1991) (99)
Abnormal transmitter release at neuromuscular junctions of mice carrying the tottering alpha(1A) Ca(2+) channel mutation. (2000) (98)
Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine (2015) (98)
Heparan sulphate proteoglycans are involved in the lipoprotein lipase-mediated enhancement of the cellular binding of very low density and low density lipoproteins. (1992) (95)
Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle. (2008) (95)
The human alpha-amylase multigene family consists of haplotypes with variable numbers of genes. (1989) (93)
Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis (2001) (92)
Modulation of very low density lipoprotein production and clearance contributes to age- and gender- dependent hyperlipoproteinemia in apolipoprotein E3-Leiden transgenic mice. (1996) (90)
Current PTCA practice and clinical outcomes in The Netherlands: the real world in the pre-drug-eluting stent era. (2004) (90)
FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients (2004) (88)
Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution. (2010) (87)
Genetic Architecture of Plasma Adiponectin Overlaps With the Genetics of Metabolic Syndrome–Related Traits (2010) (86)
Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing. (1995) (85)
Reliable classification of six Pi M subtypes by separator isoelectric focusing. (1978) (85)
Influence of apo E polymorphism on the response to simvastatin treatment in patients with heterozygous familial hypercholesterolemia. (1990) (85)
Clinical significance of pepsinogen a isozymogens, serum pepsinogen A and C levels, and serum gastrin levels (1987) (82)
Genetic Inflammatory Factors Predict Restenosis After Percutaneous Coronary Interventions (2005) (81)
Additional risk factors influence excess mortality in heterozygous familial hypercholesterolaemia. (2000) (79)
Reliable and controllable antibody fragment selections from Camelid non-immune libraries for target validation. (2006) (78)
Genetic heterogeneity in familial dysbetalipoproteinemia. The E2(lys146----gln) variant results in a dominant mode of inheritance. (1990) (78)
Apolipoprotein E polymorphism affects plasma levels of lipoprotein(a). (1991) (78)
PCR-based microsatellite polymorphisms in the detection of loss of heterozygosity in fresh and archival tumour tissue. (1993) (78)
Lipoprotein profile of a Greenland Inuit population. Influence of anthropometric variables, Apo E and A4 polymorphism, and lifestyle. (1992) (78)
Plasma apoAV levels are markedly elevated in severe hypertriglyceridemia and positively correlated with the APOA5 S19W polymorphism. (2007) (78)
Exclusion of the dysplastic nevus syndrome (DNS) locus from the short arm of chromosome 1 by linkage studies in Dutch families. (1989) (77)
The lipoprotein lipase (Asn291-->Ser) mutation is associated with elevated lipid levels in families with familial combined hyperlipidaemia. (1996) (73)
The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy. (2005) (73)
Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine (2006) (72)
Proteomic Analysis of the Dysferlin Protein Complex Unveils Its Importance for Sarcolemmal Maintenance and Integrity (2010) (71)
Gene expression profiling identifies tumour markers potentially playing a role in uveal melanoma development (2003) (71)
Apolipoprotein A-IV polymorphism and its effect on plasma lipid and apolipoprotein concentrations. (1988) (70)
Tumor necrosis factor‐α plays an important role in restenosis development (2005) (70)
Somatic mosaicism in FSHD often goes undetected (2004) (67)
Insulin-resistance and metabolic syndrome are related to executive function in women in a large family-based study (2010) (67)
5‐HT1B Receptor Polymorphism and Clinical Response to Sumatriptan (1998) (65)
FRG1P-mediated aggregation of proteins involved in pre-mRNA processing (2007) (64)
Genome-wide association study of migraine implicates a common susceptibility variant on 8 q 22 . 1 (2010) (64)
Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level (2009) (63)
Erythrocyte superoxide dismutase deficiency in Fanconi's anaemia established by two independent methods of assay. (1979) (63)
P/Q-type Ca2+ channel defects in migraine, ataxia and epilepsy. (1998) (62)
Apolipoprotein E polymorphism in the Netherlands and its effect on plasma lipid and apolipoprotein levels (1988) (62)
Tumor necrosis factor-alpha plays an important role in restenosis development. (2005) (62)
Major and minor form of hereditary hyperekplexia (2002) (61)
Apolipoprotein E*3-Leiden allele results from a partial gene duplication in exon 4. (1989) (61)
Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display (2005) (61)
Molecular genetic reevaluation of the Dutch hyperekplexia family. (1995) (60)
Recent findings in headache genetics (2004) (60)
Genetic analysis of sex and generation differences in plasma lipid, lipoprotein, and apolipoprotein levels in adolescent twins and their parents (1996) (59)
Migraine is not associated with enhanced atherosclerosis (2013) (59)
Mutation Analysis of the CACNA1A Calcium Channel Subunit Gene in 27 Patients With Sporadic Hemiplegic Migraine (2002) (58)
Both lipolysis and hepatic uptake of VLDL are impaired in transgenic mice coexpressing human apolipoprotein E*3Leiden and human apolipoprotein C1. (1996) (57)
Expression profiling reveals that methylation of TIMP3 is involved in uveal melanoma development. (2004) (57)
Migraine genetics: An update (2005) (56)
Epigenetic mechanisms of facioscapulohumeral muscular dystrophy. (2008) (53)
Linkage analysis in Dutch familial atypical multiple mole-melanoma (FAMMM) syndrome families. Effect of naevus count. (1993) (53)
Expression profiling reveals that methylation of TIMP3 is involved in uveal melanoma development (2003) (51)
Severely impaired neuromuscular synaptic transmission causes muscle weakness in the Cacna1a‐mutant mouse rolling Nagoya (2007) (50)
Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy. (2004) (50)
alpha1-antitrypsin: common subtypes of Pi M. (1976) (50)
Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families (2018) (50)
Genetic models of migraine. (2007) (48)
Familial Partial Epilepsy with Variable Foci in a Dutch Family: Clinical Characteristics and Confirmation of Linkage to Chromosome 22q (2003) (48)
High levels of dietary stearate promote adiposity and deteriorate hepatic insulin sensitivity (2010) (48)
Dysferlin Regulates Cell Adhesion in Human Monocytes* (2013) (48)
The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements. (1999) (47)
Increased response to cholesterol feeding in apolipoprotein C1-deficient mice. (1995) (46)
Similar response to simvastatin in patients heterozygous for familial hypercholesterolemia with mRNA negative and mRNA positive mutations. (1998) (45)
The Effect of Oral Omeprazole on Gastric Acid and Pepsin Secretion (1986) (45)
The expression of type III hyperlipoproteinemia: involvement of lipolysis genes (2009) (45)
Metabolic syndrome and risk of restenosis in patients undergoing percutaneous coronary intervention. (2005) (44)
Separator isoelectric focusing for identification of α-1-antitrypsin (Pi M) subtypes (1978) (43)
ERYTHROCYTE SUPEROXIDE-DISMUTASE DEFICIENCY IN FANCONI'S ANÆMIA (1978) (43)
FRG1, a gene in the FSH muscular dystrophy region on human chromosome 4q35, is highly conserved in vertebrates and invertebrates. (1998) (42)
Rearrangements in the LDL receptor gene in Dutch familial hypercholesterolemic patients and the presence of a common 4 kb deletion. (1990) (41)
Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine. (2003) (41)
SUPEROXIDE DISMUTASE IN DOWN SYNDROME (1975) (41)
Interleukin 10: a new risk marker for the development of restenosis after percutaneous coronary intervention (2007) (40)
Active genes in junk DNA? Characterization of DUX genes embedded within 3.3 kb repeated elements. (2001) (39)
Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4 (2007) (39)
Apolipoprotein gene cluster on chromosome 19 (2004) (39)
The impact of pharmacogenetics for migraine. (2001) (39)
Calcium channel mutations and migraine (2002) (38)
A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD) (1999) (37)
Benign familial infantile convulsions: a clinical study of seven Dutch families. (2002) (37)
Interpretation of polymorphic DNA patterns in the human α-amylase multigene family (1991) (37)
Hyperekplexia-like syndromes without mutations in the GLRA1 gene (1997) (37)
Inefficient degradation of triglyceride-rich lipoprotein by HepG2 cells is due to a retarded transport to the lysosomal compartment. (1993) (36)
T1 relaxation in in vivo mouse brain at ultra‐high field (2007) (36)
Purkinje Cell-Specific Ablation of CaV2.1 Channels is Sufficient to Cause Cerebellar Ataxia in Mice (2011) (35)
Locus for susceptibility to melanoma on chromosome 1p. (1990) (35)
Gender-related association between the -93T-->G/D9N haplotype of the lipoprotein lipase gene and elevated lipid levels in familial combined hyperlipidemia. (1998) (35)
Reduced very-low-density lipoprotein fractional catabolic rate in apolipoprotein C1-deficient mice. (1997) (35)
Genomic analysis of the response of mouse models to high-fat feeding shows a major role of nuclear receptors in the simultaneous regulation of lipid and inflammatory genes. (2005) (34)
Involvement of a Ca 2+ Channel Gene in Familial Hemiplegic Migraine and Migraine With and Without Aura (1997) (34)
Severe hyperlipidemia in apolipoprotein E2 homozygotes due to a combined effect of hyperinsulinemia and an SstI polymorphism. (1999) (34)
Menopause impacts the relation of plasma adiponectin levels with the metabolic syndrome (2010) (33)
Closing in on the Rieger syndrome gene on 4q25: mapping translocation breakpoints within a 50-kb region. (1996) (33)
Macrophage specific overexpression of the human macrophage scavenger receptor in transgenic mice, using a 180-kb yeast artificial chromosome, leads to enhanced foam cell formation of isolated peritoneal macrophages. (1999) (32)
Somatic Pairing Between Subtelomeric Chromosome Regions: Implications for Human Genetic Disease? (2004) (32)
A cascade of complex subtelomeric duplications during the evolution of the hominoid and Old World monkey genomes. (2002) (32)
The mouse low density lipoprotein receptor gene: cDNA sequence and exon-intron structure. (1993) (31)
Apolipoprotein E1-Hammersmith (Lys146-->Asn;Arg147-->Trp), due to a dinucleotide substitution, is associated with early manifestation of dominant type III hyperlipoproteinaemia. (1996) (31)
Conditional inactivation of the Cacna1a gene in transgenic mice (2006) (31)
Inhibition of neointima formation by local delivery of estrogen receptor alpha and beta specific agonists. (2007) (30)
Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2 (2008) (29)
Exclusion of epidermal growth factor and high-resolution physical mapping across the Rieger syndrome locus. (1996) (29)
Genomic and cDNA cloning of a novel mouse lipoxygenase gene. (1995) (27)
Evolution of the human alpha-amylase multigene family through unequal, homologous, and inter- and intrachromosomal crossovers. (1990) (27)
Exact localization of the familial dysbetalipoproteinemia associated HpaI restriction site in the promoter region of the APOC1 gene. (1988) (27)
Molecular genetics of facioscapulohumeral muscular dystrophy (1993) (27)
Structure and expression of the mouse apolipoprotein C2 gene. (1993) (27)
Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation (2009) (26)
Severe and progressive neurotransmitter release aberrations in familial hemiplegic migraine type 1 Cacna1a S218L knock-in mice. (2010) (26)
Characterization of acetylcholine release and the compensatory contribution of non-Cav2.1 channels at motor nerve terminals of leaner Cav2.1-mutant mice (2007) (26)
Evolutionary conservation of the mouse apolipoprotein e-c1-c2 gene cluster: structure and genetic variability in inbred mice. (1993) (26)
The Dutch FAMMM family material: clinical and genetic data. (1992) (26)
From sporadic atypical nevi to familial melanoma: risk analysis for melanoma in sporadic atypical nevus patients. (2007) (26)
Compensatory contribution of Cav2.3 channels to acetylcholine release at the neuromuscular junction of tottering mice. (2006) (25)
A Pro → Leu substitution in codon 369 of the alpha-1-antitrypsin deficiency variant PI MHeerlen (1989) (25)
Calpain 3 Is a Rapid-Action, Unidirectional Proteolytic Switch Central to Muscle Remodeling (2010) (25)
Hereditary spastic paraparesis Clinical and genetic data from a large Dutch family (1993) (25)
Familial hemiplegic migraine: involvement of a calcium neuronal channel. (1997) (25)
Recent amplification of the human FRG1 gene during primate evolution. (1999) (24)
Familial hemiplegic migraine. (2008) (24)
2 A Cacna 1 a Knockin Migraine Mouse Model with Increased Susceptibility to Cortical Spreading Depression (2006) (24)
Genetics of seven Dutch familial atypical multiple mole-melanoma syndrome families: a review of linkage results including chromosomes 1 and 9. (1994) (24)
The novel p . L 1649 Q mutation in the SCN 1 A epilepsy gene is associated with familial hemiplegic migraine : genetic and functional studies (2011) (24)
Human pancreatic amylase is encoded by two different genes. (1988) (23)
Self‐regulated alternative splicing at the AHNAK locus (2012) (23)
Cloning and characterization of an α1-antitrypsin like gene 12 kb downstream of the genuine α1-antitrypsin gene (1988) (22)
–455 G/A polymorphism and preprocedural plasma levels of fibrinogen show no association with the risk of clinical restenosis in patients with coronary stent placement (2005) (22)
Quantitative cortical synapse proteomics of a transgenic migraine mouse model with mutated CaV2.1 calcium channels (2010) (22)
First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine (2007) (22)
Plasma lipoproteins in familial dysbetalipoproteinemia associated with apolipoproteins E2(Arg158-->Cys), E3-Leiden, and E2(Lys146-->Gln), and effects of treatment with simvastatin. (1994) (22)
Familial melanoma; CDKN2A and beyond. (1999) (22)
28 – Migraine as a Cerebral Ionopathy with Impaired Central Sensory Processing (2007) (21)
A locus linked to p16 modifies melanoma risk in Dutch familial atypical multiple mole melanoma (FAMMM) syndrome families. (1999) (21)
Genetics of headaches. (2010) (21)
Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine (2007) (21)
Alpha-1-antitrypsin and blood pressure (1991) (21)
A Parent-Twin Study of Plasma Levels of Histidine-Rich Glycoprotein (HRG) (1993) (21)
Protease inhibitor (Pi) locus, fertility and twinning (1992) (20)
Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk (Nature Genetics (2010) 42 (105-116)) (2010) (20)
Genetic models of migraine E I G H T CHAPTER 8 (20)
New genetic variants of parotid salivary amylase. (1979) (20)
Variable expression of familial dysbetalipoproteinemia in apolipoprotein E*2 (Lys146-->Gln) Allele carriers. (1994) (20)
Effect of single and repeated doses of oral omeprazole on gastric acid and pepsin secretion and fasting serum gastrin and serum pepsinogen I levels (1986) (20)
Mutant P/Q-type calcium channel electrophysiology and migraine. (2001) (20)
Relations between serum pepsinogen levels, pepsinogen phenotypes, ABO blood groups, age and sex in blood donors. (1985) (19)
Clinical and genetic aspects of idiopathic epilepsies in childhood. (2005) (19)
Recent Investigations of the First Bleeder Family in Åland (Finland) Described by von Willebrand (1981) (19)
The Hyplip2 locus causes hypertriglyceridemia by decreased clearance of triglyceridess⃞ Published, JLR Papers in Press, July 3, 2007. (2007) (19)
A powerful and rapid approach to human genome scanning using small quantities of genomic DNA. (2001) (19)
Cloning and sequencing of rhesus monkey pepsinogen A cDNA. (1988) (18)
Missense Mutation Carried by Patients with Episodic Ataxia Type 2 (18)
The Gm‐Pi linkage heterogeneity in view of Pi M subtypes (1981) (18)
Interpretation of polymorphic DNA patterns in the human alpha-amylase multigene family. (1991) (18)
The V73M mutation in the hepatic lipase gene is associated with elevated cholesterol levels in four Dutch pedigrees with familial combined hyperlipidemia. (2000) (18)
Genetic evidence for fetal origin of transcobalamin II in human cord blood. (1983) (17)
Facioscapulohumeral muscular dystrophy gene in Dutch families is not linked to markers for familial adenomatous polyposis on the long arm of chromosome 5 (1990) (17)
Purification of the pepsinogen A isozymogens by means of high resolution ion-exchange chromatography. Evidence for post-translational modifications. (1985) (17)
Inactivation of Apoe and Apoc1 by two consecutive rounds of gene targeting: effects on mRNA expression levels of gene cluster members. (1995) (17)
An acceptor splice site mutation in intron 16 of the low density lipoprotein receptor gene leads to an elongated, internalization defective receptor. (1993) (17)
Assignment of human transcobalamin II (TC2) to chromosome 22 using somatic cell hybrids and monosomic meningioma cells (1986) (16)
Inflammation and apoptosis genes and the risk of restenosis after percutaneous coronary intervention (2005) (16)
Genetic analysis of indicators of cholesterol synthesis and absorption: lathosterol and phytosterols in Dutch twins and their parents. (2003) (16)
Enzyme-linked immunosorbent assay and radioimmunoassay of serum pepsinogen A. (1987) (16)
Salivary protein polymorphism in Kenya: evidence for a new AMY1 allele. (1984) (16)
Equal proportions of affected cells in muscle and blood of a mosaic carrier of facioscapulohumeral muscular dystrophy (2006) (15)
Effect of insulin resistance, apoE2 allele, and smoking on combined hyperlipidemia. (1994) (15)
The human amylase-encoding genes amy2 and amy3 are identical to AMY2A and AMY2B. (1989) (15)
Evidence for the absence of intron H of the histidine-rich glycoprotein (HRG) gene: genetic mapping and in situ localization of HRG to chromosome 3q28-q29. (1994) (15)
Combined association and linkage analysis applied to the APOE locus (2004) (15)
Gene dosage-dependent transmitter release changes at neuromuscular synapses of Cacna 1 a R 192 Q knockin mice are non-progressive and do not lead to morphological changes or muscle weakness T H R E E CHAPTER 3 (2007) (15)
Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families (2008) (15)
Search for the FSHD gene using cDNA selection in a region spanning 100 kb on chromosome 4q35 (1995) (15)
Cloning of the murine unconventional myosin gene Myo9b and identification of alternative splicing. (1999) (15)
Specific activity of human erythrocyte superoxide dismutase as a function of donor age. A brief note (1978) (14)
Pepsinogen synthesis and secretion in isolated gastric glands. (1984) (14)
Evidence for duplication of the human salivary amylase gene (2004) (14)
Toward a molecular genetic classification of familial hemiplegic migraine (2004) (14)
The influence of established genetic variation in the haemostatic system on clinical restenosis after percutaneous coronary interventions (2007) (14)
GRANULAR CORNEAL DYSTROPHY WITH LATE MANIFESTATION (1983) (14)
Lipoprotein lipase gene polymorphisms and the risk of target vessel revascularization after percutaneous coronary intervention. (2005) (13)
Monosomy of distal 4 q does not cause facioscapulohumeral muscular dystrophy (2004) (13)
Identification of Differentially Regulated Genes in Mildly Hyperlipidemic ApoE3-Leiden Mice by Use of Serial Analysis of Gene Expression (2001) (13)
Early-Onset Facioscapulohumeral Muscular Dystrophy Type 1 With Some Atypical Features (2015) (13)
Genetics of urinary pepsinogen: A new hypothesis (2004) (13)
Genetic study of Tunisian Berbers. II. Alpha 1-antitrypsin (Pi) polymorphism: report of a new allele (Pi S Berber). (1984) (13)
Pepsinogen synthesis in monolayer culture of human and rabbit gastric mucosal cells (1985) (13)
Genomic structure and evolution of the human pepsinogen A multigene family (2004) (13)
ABH secretion polymorphism in Icelanders, Aland Islanders, Finns, Finnish Lapps, Komi and Greenland Eskimos: a review and new data. (1986) (13)
Detection of alpha-1-antitrypsin deficiency variants by synthetic oligonucleotide hybridization. (1987) (12)
The mouse apolipoprotein C1 gene: structure and expression. (1993) (12)
Wolff Award 1997. Involvement of a Ca2+ channel gene in familial hemiplegic migraine and migraine with and without aura. Dutch Migraine Genetics Research Group. (1997) (12)
The apolipoprotein C2-linked (Acl) gene: a new gene within the mouse apolipoprotein e-c1-c2 gene cluster. (1994) (12)
Reduced ACh release at neuromuscular synapses of heterozygous leaner Cav2.1‐mutant mice (2008) (12)
Pepsinogen A polymorphism in gastric mucosa and urine, with special reference to patients with gastric cancer (1986) (12)
The effect of apolipoprotein E allele substitutions on plasma lipid and apolipoprotein levels. (1988) (12)
Transmitter Release Deficits at the Neuromuscular Synapse of Mice with Mutations in the Cav2.1 (α1A) Subunit of the P/Q‐Type Ca2+ Channel (2003) (11)
Familial dysbetalipoproteinemic subjects with the E3/E2 phenotype exhibit an E2 isoform with only one cysteine residue (1987) (11)
Familial chylomicronemia caused by a novel type of mutation in the APOE-CI-CIV-CII gene cluster encompassing both the APOCII gene and the first APOCIV gene mutation: APOCII-CIV(Nijmegen). (2000) (11)
RNA expression profiling in brains of familial hemiplegic migraine type 1 knock-in mice (2014) (10)
Redundancy of Cav2.1 channel accessory subunits in transmitter release at the mouse neuromuscular junction (2007) (10)
Effect of apolipoprotein E and insulin resistance on VLDL particles in combined hyperlipidemic patients. (1996) (10)
The incidence of mini- and micro-satellite repetitive DNA in the canine genome (1994) (10)
Two-locus Linkage Analysis Applied to Putative Quantitative Trait Loci for Lipoprotein(a) Levels (2003) (10)
Gastric proteases in Barrett's esophagus. (1987) (10)
Parental α 1‐antitrypsin (PI) types and meiotic nondisjunction in the aetiology of Down syndrome (1981) (10)
Effective generation of very low density lipoprotein receptor transgenic mice by overlapping genomic DNA fragments: high testis expression and disturbed spermatogenesis (2004) (9)
Clinical Studies in Non-chromosome 4-Linked Facioscapulohumeral Muscular Dystrophy (2001) (9)
Qualitative and quantitative determinations of pepsinogen I in gastric cancer and premalignant changes of the stomach. (1985) (9)
A long-term follow-up study of 18 patients with sporadic hemiplegic migraine (2011) (9)
The influence of omeprazole on the synthesis and secretion of pepsinogen in isolated rabbit gastric glands. (1985) (9)
Low-density lipoproteins are degraded in HepG2 cells with low efficiency. (1993) (9)
Erratum: Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families (Neuron (2018) 98(4) (743–753.e4), (S0896627318303222) (10.1016/j.neuron.2018.04.014)) (2018) (9)
Rare apolipoprotein E variant cosegregating with a unique APOE-C1-C2 haplotype in a normolipidemic family. (1988) (8)
Variability in cholesterol content in serum and aortic tissue in apolipoprotein E-deficient mice is comparable in inbred (129/Sv) and outbred (mixed 129/Sv and C57BL/6) mice. (1995) (8)
Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy (2005) (8)
The lipoprotein lipase (ASN291→SER) mutation is associated with elevated lipid levels in familial combined hyperlipidemia (1995) (8)
Assignment of human pepsinogen A locus to the q12-pter region of chromosome 11 (2004) (8)
Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments (2005) (8)
Linkage and apparent heterogeneity in proximal spinal muscular atrophies (1993) (8)
Nomenclature Committee report: pepsinogens. Nomenclature Committee of Human Gene Mapping Conference. (1985) (8)
Detection of allele-specific transcripts by the polymerase chain reaction (AST-PCR). (1991) (7)
Genetics and pathology of voltage-gated Ca2+ channels. (1998) (7)
Migraine: new treatment options from molecular biology (2005) (7)
Distribution of genetic variants of transcobalamin II in Nigerian black populations. (1984) (7)
Specific and efficient targeting of adenovirus vectors to macrophages: application of a fusion protein between an adenovirus‐binding fragment and avidin, linked to a biotinylated oligonucleotide (2006) (6)
Cloning and characterization of an alpha 1-antitrypsin like gene 12 KB downstream of the genuine alpha 1-antitrypsin gene. (1988) (6)
Parental alpha 1-antitrypsin (PI) types and meiotic nondisjunction in the aetiology of Down syndrome. (1981) (6)
Efficient targeting of adenoviral vectors to integrin positive vascular cells utilizing a CAR-cyclic RGD linker protein. (2005) (6)
Lipoprotein profiles in a family with two mutants of apolipoprotein E: possible association with hypertriglyceridaemia but not with dysbetalipoproteinaemia. (1994) (6)
Comparison of the PI patterns of alpha 1-antitrypsin on acid starch gel electrophoresis and isoelectric focusing. (1981) (6)
Family and population studies on the human pepsinogen A multigene family (1989) (6)
Characterisation of the LDL receptor in Epstein-Barr virus transformed lymphocytes. (1990) (5)
No predictive value of GC phenotypes for HIV infection and progression to AIDS (1988) (5)
Variants of the melanocyte-stimulating hormone receptor gene modify melanoma risk in familial atypical multiple mole-melanoma (FAMMM) syndrome families: 029 (1997) (5)
Confirmation of linkage of benign familial infantile convulsions to chromosome 16p, and indication of further genetic heterogeneity (2004) (5)
Identification of a splice-site mutation in the low density lipoprotein receptor gene by denaturing gradient gel electrophoresis (1993) (5)
Absence of mutations in the promoter region of the low density lipoprotein receptor gene in a large number of familial hypercholesterolaemia patients as revealed by denaturing gradient gel electrophoresis (1992) (5)
The effect of the apolipoprotein E phenotype on plasma lipids is not influenced by environmental variability: results of a Dutch twin study (1993) (5)
Alternative method for quantification of atherosclerosis (2000) (4)
Molecular cloning of a pair of human pepsinogen A genes which differ by a Glu→Lys mutation in the activation peptide (1987) (4)
M2 alpha-1-antitrypsin phenotype and primary liver cancer. (1981) (4)
A New Unstable PI M Variant of a1-Antitrypsin in a Finnish Isolate (1980) (4)
Fibrinogen genes and peripheral arterial disease (1992) (4)
Immunological discrimination between the human apolipoprotein E2(Arg158----Cys) and E3 isoforms. (1992) (4)
Genetics of familial atypical multiple mole-melanoma (FAMMM) syndrome in The Netherlands: how far have we come? (1998) (4)
Pre-procedural levels of erythrocyte sedimentation rate (ESR) and risk of clinical restenosis in patients with percutaneous coronary intervention and coronary stent placement (2005) (4)
Characterization of acetylcholine release and the compensatory contribution of non-Cav 2 . 1 channels at motor nerve terminals of leaner Cav 2 . 1-mutant mice F I V E CHAPTER 5 (3)
Separator isoelectric focusing for identification of alpha-1-antitrypsin (Pi M) subtypes. (1978) (3)
Variant-specific differences in human unsaturated transcobalamin II (1986) (3)
Familial dysbetalipoproteinemia: a genetically heterogenous disease caused by mutations of the ligand apolipoprotein E. (1992) (3)
The V 73 M mutation in the hepatic lipase gene is associated with elevated cholesterol levels in four Dutch pedigrees with familial combined hyperlipidemia (2000) (3)
Effect of Oral Omeprazole on Fasting and Meal Stimulated Serum Gastrin and Serum Pepsinogen I Levels in Healthy Volunteers (1986) (3)
Fish mapping of 250 cosmid and 26 YAC clones to chromosome 4 with special emphasis on the FSHD region at 4q35 (1995) (3)
Urinary pepsinogen I: A multigene family? (1985) (3)
The use of isolates in migraine genetic research. (1999) (3)
Alpha 1-antitrypsin in acute anterior uveitis and rheumatic diseases. (1986) (2)
Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families. (2006) (2)
[Gene diagnosis of facioscapulohumeral muscular dystrophy]. (2001) (2)
Elevated levels of chylomicron- and VLDL-remnants leads to atherosclerosis in apoE transgenic mice. (1996) (2)
Genetic polymorphisms in serum and erythrocytes of the Bashkirs. (1986) (2)
Letter: Superoxide dismutase in Down syndrome. (1975) (2)
Mapping QTLs for HDL-C, LDL-C and associated proteins and identification of underlying genetic variants: A meta-analysis of four genome scans. (2004) (1)
[From gene to disease; familial hemiplegic migraine as a result of mutations in a sodium-potassium pump gene]. (2004) (1)
Treatment of E2E2 homozygous familial dysbetalipoproteinemic subjects with gemfibrozil does not enhance the binding of their d < 1.019 lipoprotein fraction to the low-density lipoprotein receptor. (1993) (1)
A search for genes in the facioscapulohumeral muscular dystrophy region. (1996) (1)
Clinical and genetic patterns in Dutch FAMMM families: 46 (1993) (1)
High proportion of new mutations and possible anticipation following molecular genetic studies in brazilian facioscapulohumeral muscular dystrophy (fshd) families (1994) (1)
Pure hereditary spastic paraparesis: an exclusion map covering more than 40% of the autosomal genome (1994) (1)
The Metabolism of Vldl Remnants in Apoe*3-Leiden Transgenic Mice (1996) (1)
variables, Apo E and A4 polymorphism, and lifestyle Lipoprotein profile of a Greenland Inuit population. Influence of anthropometric (2011) (1)
Reduced ACh Release at Neuromuscular Synapses of Heterozygous Leaner Mice (2007) (1)
Genome scan for quantitative traits involved in cardiovasculair disease in three independent populations (2001) (1)
Diet induced hypercholesterolemia in apolipoprotein C1-deficient mice (1994) (1)
Migraine without aura: genome-wide association analysis identifies several novel susceptibility (2013) (1)
[From gene to disease; from CACNA1A to migraine]. (2001) (1)
An additional MspI RFLP at the human hepatic lipase (HL) gene locus. (1990) (1)
Automatic morphological assessment in a transgenic CACNA1A knockin migraine mouse model in in-vivo high-resolution MRM (2006) (1)
The risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma (FAMMM) associated with a specific 19 BP deletion of P16 (P16 Leiden) (2000) (1)
Alpha 1-antitrypsin and acute anterior uveitis. (1981) (1)
1.P.80 Atherosclerosis in scavenger receptor deficient APOE3Leiden transgenic mice (1997) (1)
The mouse homolog of FRG1, a candidate gene for FSHD, maps proximal to the myodystrophy mutation on chromosome 8 (1997) (1)
Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families (2008) (1)
α1-Antitrypsin and acute anterior uveitis (2004) (1)
Two novel mutations in the CACNA1A gene leading to identical functional consequences but with different phenotypic expression. (2002) (0)
CHAPTER 9 – The Subtelomeric D4Z4 Repeat Instability in Facioscapulohumeral Muscular Dystrophy (2006) (0)
Th-P17:418 Quantitative trait LOCI mapping of metabolic syndrome susceptibility genes in mouse (2006) (0)
Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease (2020) (0)
No Direct Effect of Topiramate on Wild-Type and Mutant CaV2.1 Channels Mediating Acetylcholine Release at Mouse Neuromuscular Synapses (2007) (0)
Effect of expression of apo E mutants in transgenic mice (1994) (0)
Severe and Progressive Neurotransmitter Release Aberrations in a Novel Familial Hemiplegic Migraine Cacna1a S218L Knock-In Mouse (2007) (0)
Hereditary disorders, early diagnostics and treatment (2006) (0)
Genetic determinants of restenosis (GENDER) (1998) (0)
6-455 G / a polymorphism and preprocedural plasma levels of fibrinoGen show no association with the risk of clinical restenosis in patients with coronary stent placement (2006) (0)
RESTRICTION FRAGMENT LENGTH POLYMORPHISMS IN THE APOLIPOPROTEIN E-C1-C2 GENE CLUSTER: ASSOCIATION WITH FAMILIAL DYSBETALIPOPROTEINEMIA (1987) (0)
Apo E Polymorphism in Relation to the Expression of Familial Dysbetalipoproteinemia (1989) (0)
Mutations in the LDL receptor gene causing mRNA deficienty in heterozygous familial hypercholesterolemia (1995) (0)
Contents, Vol. 30, 1980 (1980) (0)
Linkage of the APOE locus with ApoE plasma levels in adolescent Dutch twins is completely explained by the APOE e2/e3/e4 alleles (2002) (0)
Tumor necrosis factor- (cid:1) plays an important role in restenosis development (2005) (0)
Muscular Dystrophy A Unifying Genetic Model for Facioscapulohumeral (2010) (0)
2P-0513 Identification of dietary response genes in hyperlipidemic mouse models by gene expression profiling (2003) (0)
Genome analysis and molecular cytogenetics (2001) (0)
Migraine is not associated with enhanced atherosclerosis 7 (2015) (0)
MMP9, an important mediator of vascular remodelling, and risk of restenosis after percutaneous coronary intervention (2005) (0)
GeNeratioN aND characteriZatioN of traNsGeNic mice expressiNG t 666 m mutaNt cav 2 . 1 α 1 suBuNits iN purKiNje cells (2010) (0)
4 metabolic syndrome and risk of restenosis in patients underGoinG percutaneous coronary intervention (2006) (0)
Genetics of cardiovascular diseases (2001) (0)
Purkinje Cell-Specific Ablation of CaV2.1 Channels is Sufficient to Cause Cerebellar Ataxia in Mice (2011) (0)
The α1 antitrypsin variant PI*WFINNEYTOWN in a family of Caucasian origin (2004) (0)
7 lipoprotein lipase Gene polymorphisms and the risk of tarGet vessel revascularization after percutaneous coronary intervention (2006) (0)
The alpha 1 antitrypsin variant PI WFINNEYTOWN in a family of Caucasian origin. (1985) (0)
Generation and Characterization of Apolipoprotein Cl-Deficient Mice (1995) (0)
Molecular Analysis of Facioscapulohumeral Muscular Dystrophy (FSHD1) (2001) (0)
Impact of insulin resistance, apolipoprotein E2 allele, and smoking on combined hyperlipidemia (1994) (0)
More insight in the genetic mechanisms underlying facioscapulohumeral muscular dystrophy (1997) (0)
Calpain 3 proteolysis regulates AHNAK turnover and prevents its interaction with dysferlin and myoferlin (2006) (0)
R192Q knockin migraine mouse model: increased susceptibility to cortical spreading depression and cerebellar MRI abnormalities (2007) (0)
1 Dysferlin regulates cell adhesion in human monocytes (2013) (0)
The genetic architecture of plasma adiponectin overlaps with the genetics of metabolic syndrome related traits Running Title: Shared heritability of adiponectin and the MetS (2010) (0)
Rare mutations in the APOE gene associated with dominant mode of inheritance of Familial Dysbetalipoproteinemia (FD) (1993) (0)
CDKN2/P16 in Dutch melanoma families: in complete genotype-phenotype correlation (1997) (0)
A new unstable PI M variant of alpha 1-antitrypsin in a Finnish isolate. (1980) (0)
Molecular dissection of the dysferin protein complex in skeletal muscle (2005) (0)
Th-P15:117 Hyplip2, a new locus involved in lipid and glucose metabolism (2006) (0)
Regulation of the LDL receptor in apoE3leiden transgenic mice (1995) (0)
Redundancy of Accessory Subunits of CaV2.1 Channels in Transmitter Release at the Mouse Neuromuscular Junction (2007) (0)
Crosstalk between Dysferlin and Integrin ß 3 regulates cell contacts in human monocytes (2011) (0)
3 AHNAK , a novel component of the dysferlin protein complex , redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration (2006) (0)
Liver-specific overexpression of a constitutive active estrogen receptor alpha (ERα)-variant induces hypo lipidemia in male APOE3-leiden mice (2000) (0)
Mutation inDHP receptorcxlsubunit (CACLN1A3)gene ina Dutchfamily with hypokalaemic periodic paralysis (1995) (0)
Last-Minute Poster Presentations (2005) (0)
High throughput genotyping of apoE using molecular beacons and real-time monitoring of fluorescence PCR (2000) (0)
Administration of 17- -estradiol to an insulin resistant mouse model acutely improves hepatic insulin sensitivity (2006) (0)
IL-17 Genetics of the FAMMM Syndrome (2003) (0)
Genetic determinants for the risk of development of COPD in individuals with alpha-1-antitrypsin deficiency of the Pi ZZ fenotype (2002) (0)
Genetic Analysis of Indicators of Cholesterol Synthesis and Absorption: Lathosterol and Phytosterols in Dutch Twins and Their Parents (2003) (0)
3P-0817 Identification of novel modifier loci of hyperlipidemia by integration of genetics and genomics (2003) (0)
Abstract: 1477 ADIPONECTIN (ADIPOQ) GENE POLYMORPHISMS AND ADIPONECTIN LEVELS IN OBESE WITH AND WITHOUT CARDIOMETABOLIC RISK FACTORS (2009) (0)
Plasma triglyceride metabolism in apolipoprotein-E*3-Leiden transgenic mice (1995) (0)
No evidence for a locus influencing Lp(a) levels on chromosome 1 (2002) (0)
Erratum: Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families (European Journal of Human Genetics (2008) 10.38/ejhg.2008.72) (2008) (0)
Pepsinogen synthesis and secretion by isolated gastric glands. (1985) (0)
Gene expression profiles distinguish fasting and high-fat diet induced steatosis (2010) (0)
Studies on hair pigmentation and blood groups in the Bashkirs. (1986) (0)
Mo-P6:421 Genetic variants in the angiopoietin-like 4 gene of hypertriglyceridemic patients (2006) (0)
Genome-wide association study for migraine in a Dutch genetic isolate and meta-analysis with other population-based cohorts (2011) (0)
10 interleukin 10 : a new risk marker for the development of restenosis after percutaneous coronary intervention (2006) (0)
Characterization of point mutations in the LDL receptor gene in Dutch patients with heterozygous familial hypercholesterolemia (FH) (1994) (0)
facioscapulohumeral muscular dystrophy . Monosomy of distal 4 q does not cause (2004) (0)
Subject Index, Vol. 30, 1980 (1980) (0)
AHNAK redistributes upon Integrin inhibition in cultured myoblasts (2011) (0)
Identification of novel cardiovascular susceptibility genes by mouse genetics and gene expression profiling (2000) (0)
Atherosclerosis and apoptosis; the role of p53 and CD95L (2001) (0)
Isolation and characterization of mouse lipoxygenase genes (1995) (0)
Contributors and Participants (1982) (0)
Twin studies on urinary pepsinogen A phenotypes and serum pepsinogen A levels. (1987) (0)
FHM1 S218L mutation associated with trauma triggered delayed cerebral coma and seizures in sporadic cases (2007) (0)
Homolog of the polymorphic 4q35 FSHD locus (p13E-11; D4F104S1) maps to 10qter; exclusion as a second FSHD locus in a large Danish family (1994) (0)
Familial cortical tremor with epilepsy in a Dutch pedigree (2002) (0)
4.P.316 Generation of very low density lipoprotein receptor overexpressing mice (1997) (0)
Repression of Hepatic Estrogen Receptor Alpha Does Affect Expression of Lipid-Related Gene but Does Not Affect Lipid Metabolism in Female APOE*3 Leiden Mice (2006) (0)
[From gene to disease; spastin and hereditary spastic paraparesis]. (2004) (0)
Identification of (dietary response) genes involved in lipid metabolism and susceptibility to atherosclerosis in mice (2000) (0)
Contents, Vol. 26, 1976 (1975) (0)
7.4. Application of the Pi system for identification purposes (1979) (0)
[Channelopathies: a genetic explanation of migraine and other paroxysmal neurologic disorders]. (1998) (0)
MIGRAINE GENETICS, A FASCINATING STORY TOWARDS BETTER MIGRAINE PROPHYLACTICS (2008) (0)
Apolipoprotein E Polymorphisms and the Genetic Heterogeneity of Familial Dysbetalipoproteinemia (1991) (0)
Mice deficient in both apolipoprotein E and C1 generated by consecutive gene targeting (1995) (0)
CDKN2 (P16) deletion in Dutch familial atypical multiple mole melanoma (FAMMM) syndrome (1995) (0)
The role of a cell cycle regulator, CDKN2(MTS1), in cancer (1994) (0)
Genome scan for quantitative traits involved in cardiovascular disease (1999) (0)
(Recombinant DNA; pancreatic amylase; lung carcinoid tissue; nucleotide sequence; restriction analysis) (1989) (0)
CACNA1A gene mutations in familial hemiplegic migraine (2000) (0)
Molecular genetics of lipid transport in mice; involvement ofApoe-c1-c2 genes (1994) (0)
Caenorhabditis elegansSignaling in Olfactory Plasticity Is Regulated by Pheromonal (2010) (0)

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